A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677732



Internal ID9943837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:24470393..24473599hg38UCSC Ensembl
Outerchr4:24470022..24473969hg38UCSC Ensembl
Innerchr4:24472016..24475222hg19UCSC Ensembl
Outerchr4:24471645..24475592hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg383948
hg193948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5933560, essv5636711, essv5396123, essv6249399, essv5698353, essv6352065, essv5852170, essv5937615, essv5601081, essv6122357, essv6151422, essv5737126, essv5895272, essv5928262, essv6084790, essv5996570, essv6129468, essv5759082, essv5814424, essv5908988, essv5456447, essv6262970, essv5819708, essv6075383, essv5849976, essv5588662, essv5837326, essv6304333, essv5926848, essv6552484, essv6584198, essv5962552, essv6517629, essv6194385, essv5459344, essv6503597, essv6081249, essv6055717, essv6047398, essv5511293, essv5525829, essv6001090, essv6174749, essv5728399, essv5921133, essv6089356, essv6396786, essv6406634, essv6508229, essv5537820, essv6283801, essv6118646, essv5415930, essv6165149, essv5866507, essv6432993, essv6264896, essv6458883, essv6260781, essv6496763, essv6374606, essv6170986, essv6554395, essv5434910, essv6249839, essv5944829, essv5402321, essv5427213, essv6097832, essv6431451, essv6268230, essv5681122, essv5471117, essv5598670, essv5902158, essv6381611, essv5507798, essv5449030, essv6324465, essv5511949
SamplesHG00626, HG00403, HG00650, HG00542, HG00442, HG00536, HG00608, HG00671, HG00524, HG00699, HG00566, HG00449, HG00654, HG00693, HG00663, HG00501, HG00702, HG00448, HG00634, HG00610, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00464, HG00543, HG00560, HG00629, HG00443, HG00596, HG00557, HG00428, HG00653, HG00701, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00708, HG00692, HG00635, HG00651, HG00690, HG00404, HG00531, HG00684, HG00613, HG00525, HG00704, HG00463, HG00611, HG00476, HG00625, HG00565, HG00580, HG00473, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00478, HG00421, HG00656, HG00698, HG00595, HG00472, HG00628, HG00437, HG00581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677732
Frequency
Sample Size1151
Observed Gain0
Observed Loss80
Observed Complex0
Frequencyn/a


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