A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674443



Internal ID9593862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89732691..89733030hg38UCSC Ensembl
chr16:89799099..89799438hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv517e199
Supporting Variantsessv5756342, essv5608831, essv6495388, essv6344219, essv6181929, essv5465752, essv6291147, essv5509114, essv5804463, essv5508392, essv6005621, essv5717365, essv5883079, essv6394025, essv6170636, essv5640399, essv5439174, essv5514725, essv5409625, essv5954751, essv6029578, essv5756944, essv5981679, essv5884705, essv5978182, essv5632206, essv5562867, essv6238171, essv5436319, essv6502150, essv6529731, essv6383657, essv6401075, essv6111380, essv6500380, essv5464138, essv6234133, essv6527395, essv6542787, essv6586774, essv6330976, essv5476849, essv5725405, essv5596501, essv5699356, essv5460077, essv5496359, essv5778516, essv5678151, essv5588693, essv5607243, essv5401136, essv6065536, essv6403972, essv5427991, essv6374353, essv5991966, essv6526958, essv5910997, essv5794520, essv6054556, essv6517044, essv5556803, essv6433829, essv5442879, essv5955536, essv6592367, essv5679871, essv5681898, essv6377132, essv6532854, essv5688538, essv5620463, essv5575061, essv5867342, essv6487940
SamplesNA11829, NA18592, HG00524, HG01052, HG01066, NA18603, HG00318, HG00699, NA18545, NA18596, NA18530, HG00654, NA18526, NA19920, HG00261, NA18940, NA20756, NA18582, HG01083, NA20336, HG00590, NA18611, NA12761, NA11930, HG00512, NA12044, HG00534, NA19385, HG00422, NA18990, HG01048, HG00543, HG00154, HG00653, NA18637, NA18572, NA18534, HG00619, HG01047, HG00324, HG00690, NA12829, NA11894, NA19750, HG00613, HG00276, NA18570, HG00476, NA20522, HG00336, HG00278, NA20520, HG01357, HG00473, NA20516, NA07037, HG00662, NA18610, HG00620, NA20341, NA19818, HG00614, HG00111, HG00513, HG00310, HG00698, HG00280, NA20528, HG00252, NA20502, HG00345, NA12154, NA18612, NA18549, HG00437, NA18577
Known GenesZNF276
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674443
Frequency
Sample Size1151
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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