A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678510



Internal ID9944615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138271602..138272037hg38UCSC Ensembl
chr5:137607291..137607726hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5889230, essv6478431, essv5722898, essv5535386, essv6049690, essv6447508, essv5807366, essv6590290, essv6387822, essv5839820, essv5994307, essv6268219, essv5564751, essv6044922, essv5510872, essv5950608, essv5462486, essv6212080, essv6434350, essv6544767, essv6212256, essv6465254, essv5961845, essv6507475, essv5906151, essv5645663, essv6377896, essv6417458, essv6131914, essv5902384, essv6160671, essv5940457, essv5832952, essv6353771, essv6521948, essv5757734, essv6595284, essv6583133, essv5840560, essv5749865, essv6052029, essv6568436, essv5850788, essv6333190, essv5641170, essv5411433, essv6452052, essv6327483, essv5480996, essv5690117, essv6462378, essv5817558, essv5399928
SamplesHG00114, HG01356, NA18924, NA12843, NA19355, NA19819, NA18504, HG00150, NA19443, NA18870, NA18510, HG00271, NA19446, HG00641, NA19379, NA19382, NA19197, NA20513, NA19130, NA20541, NA20127, HG00323, HG01183, HG01136, HG00268, HG01187, HG00328, NA19462, NA18516, NA18910, NA18871, HG00740, HG00373, HG00331, NA18499, NA18856, HG01383, NA18853, NA19099, NA19395, NA19675, NA19401, HG00258, NA19444, NA19380, NA19679, NA19439, NA19311, NA19360, HG01055, NA19093, HG00280, NA12154
Known GenesGFRA3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678510
Frequency
Sample Size1151
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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