A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673144



Internal ID9592563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:1231780..1247386hg38UCSC Ensembl
Outerchr7:1231409..1247756hg38UCSC Ensembl
Innerchr7:1271416..1287022hg19UCSC Ensembl
Outerchr7:1271045..1287392hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3816348
hg1916348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6044632, essv5730930, essv6264659, essv5869340, essv5854667, essv5911382, essv6379484, essv6436996, essv6140966, essv6588261, essv5659602, essv6394937, essv6465769, essv5973848, essv6043082, essv5828339, essv5689451, essv5952024, essv5572129, essv5966805, essv6426651, essv5976623, essv6433302, essv5482526, essv5444994, essv6199856, essv6359008, essv5756276, essv5818741, essv6083728, essv5524015, essv5470854, essv6129873, essv6304317, essv5980784, essv6359232, essv5954061, essv6276991, essv5459438, essv5438672, essv5640891, essv6546721
SamplesHG00252, HG00257, HG00112, HG00261, HG00148, HG00139, HG00106, HG00253, HG00156, HG00247, HG00256, HG00154, HG00158, HG00242, HG00250, HG00140, HG00259, HG00141, HG00149, HG00150, HG00125, HG00243, HG00254, HG00237, HG00114, HG00108, HG00263, HG00260, HG00239, HG00265, HG00232, HG00249, HG00246, HG00236, HG00151, HG01334, HG00138, HG00118, HG00142, HG00137, HG00136, HG00126
Known GenesUNCX
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673144
Frequency
Sample Size1151
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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