A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675259



Internal ID9594678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243262053..243262349hg38UCSC Ensembl
chr1:243425355..243425651hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6546346, essv6337851, essv6188954, essv6026958, essv6297400, essv5746493, essv5688557, essv5904790, essv6118617, essv5617335, essv6363192, essv6042782, essv6524127, essv6086627, essv5649160, essv6368593, essv6465618, essv6540033, essv6273043, essv5645884, essv5529975, essv6167190, essv5437829, essv6427115, essv6381641, essv5412751, essv6096991, essv5552225, essv5865548, essv5821397, essv6103967, essv6152511, essv6172293, essv5420442, essv6330777, essv5486150, essv6246345, essv5676124, essv6511969, essv5632243, essv5768965, essv6446157, essv5728491, essv6053702, essv5739332, essv6055868, essv5562599, essv5867131, essv5539632, essv5734658, essv6050885, essv5453748, essv6500666, essv6037809, essv5453870, essv6094134, essv6282489, essv5793965, essv6456018, essv5477254, essv6041517, essv6273876, essv6515095, essv5940465, essv5855467
SamplesNA12842, NA18621, HG01052, HG01188, HG01066, HG00315, HG00233, NA18545, NA19393, HG00261, NA18602, HG00337, HG00327, NA20796, NA18597, HG01351, HG00448, NA18574, NA11918, NA18582, NA20540, HG01083, HG01365, NA19079, NA11930, HG00139, HG01067, HG00335, HG00232, HG00422, NA12889, HG00182, NA18990, HG00338, NA18613, HG00629, HG00328, HG00428, HG00344, HG00273, HG00613, HG00321, HG00140, HG01107, HG00476, NA18542, HG00285, HG00278, NA20520, NA19773, NA07051, HG00607, HG00237, NA20516, HG00662, NA12347, HG00339, HG00672, HG00111, HG00478, HG00329, HG00656, HG00310, HG00274, NA20585
Known GenesSDCCAG8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675259
Frequency
Sample Size1151
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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