A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656779



Internal ID9922884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22500441..22500539hg38UCSC Ensembl
chr4:22502064..22502162hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6147493, essv6070152, essv5993519, essv5646530, essv5467313, essv6496253, essv6413792, essv6538997, essv5848467, essv6088158, essv5596612, essv6374438, essv6171757, essv5634280, essv6311018, essv6434648, essv6382517, essv5946555, essv5412136, essv6454501, essv6131711, essv6468452, essv6474646, essv5854089, essv5712138, essv6005927, essv5625997, essv6334897, essv6454287, essv5430662, essv5745210, essv5686554, essv6406759, essv6481963, essv6489238, essv6540220, essv6359100, essv6306548, essv5597951, essv5611716, essv5802076, essv5698911, essv5680554, essv5465462, essv6408780, essv5553053, essv5787886, essv5637885, essv6563128, essv6060269, essv6393742, essv6598235, essv6155733, essv6007012, essv6489390, essv6449516, essv6281485, essv6223884, essv6261386, essv5534283, essv5987712, essv6013024, essv5465031, essv5972756, essv5828413, essv5912076, essv5816504
SamplesHG00442, NA11829, NA18592, NA18980, NA18561, NA18603, HG00318, HG00699, NA12004, NA18596, HG00654, NA19190, NA12155, HG00327, NA18563, HG00138, NA18944, NA18550, NA18519, HG00689, NA18547, NA18942, NA11992, NA07347, NA18582, HG00334, NA18964, NA18949, HG00422, NA19239, NA18557, HG00323, NA18638, NA18951, NA12489, HG00282, NA19403, NA19391, HG00584, NA18579, NA18572, NA18537, NA18566, HG00284, NA18573, NA11919, HG00479, NA18555, HG00276, NA18570, NA18593, NA18608, HG00476, NA18542, NA18564, NA19240, NA07051, HG00473, HG00237, HG01055, NA18609, HG00310, NA20528, HG01097, NA18612, HG00437, NA18965
Known GenesGPR125
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656779
Frequency
Sample Size1151
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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