A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668233



Internal ID9934338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:34984493..34990735hg38UCSC Ensembl
chr13:35558630..35564872hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg386243
hg196243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5521079, essv6341912, essv5465772, essv5735370, essv6412629, essv6083836, essv5881119, essv5625400, essv5817461, essv5700130, essv6093838, essv6368425, essv5958028, essv5545562, essv6046689, essv5995065, essv6402117, essv6025937, essv6264867, essv6215002, essv6496662, essv6553280, essv5966445, essv5668954, essv6046151, essv6290969, essv5893931, essv6449851, essv5434830, essv5438434, essv5986413, essv6349584, essv6008120, essv6055803, essv6503386, essv6169062, essv6186879, essv6369324, essv6527078
SamplesHG01521, NA12273, NA20783, NA11933, NA20816, NA12045, NA19684, HG00150, NA20771, NA12413, HG00327, HG00272, HG00173, NA20768, NA12287, HG00334, HG00120, HG00335, HG00262, HG00232, NA19722, HG00264, NA10847, HG00313, HG00266, NA12003, HG00740, NA20525, HG00284, NA12829, HG00117, NA12827, NA12778, NA20542, HG00258, HG00357, NA20807, HG00252, NA20503
Known GenesNBEA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668233
Frequency
Sample Size1151
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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