A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672232



Internal ID9938337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140908786..140909003hg38UCSC Ensembl
chr7:140608586..140608803hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6171206, essv5497102, essv5600218, essv6149539, essv6385594, essv5559021, essv5897423, essv6557820, essv6290234, essv5737736, essv5442408, essv5912801, essv5420710, essv5569277, essv5633390, essv5687986, essv6006832, essv5582731, essv5755434, essv5924955, essv5945300, essv6384299, essv5980808, essv5461717, essv6180882, essv5753665, essv6262667, essv5539122, essv5766434, essv5955063, essv5829945, essv6548444, essv6210302, essv6287197, essv5713258, essv6488347, essv5581500, essv6386697, essv5516342, essv6308430, essv5973047, essv6223632, essv6459501, essv6057128, essv6402916, essv6002014, essv5692519, essv6021663, essv5401199, essv5944998, essv6540554, essv6047932, essv6150936, essv6556693, essv5768475, essv5478668, essv6308162
SamplesNA20543, NA19066, NA10851, HG01079, NA20813, HG00318, NA18959, NA18606, NA18616, NA12750, NA18602, NA18550, NA18519, HG01168, NA11992, HG01365, HG00281, HG01080, NA12156, NA06984, HG01170, HG00236, HG01440, HG00159, HG00326, HG00264, NA10847, HG00557, NA18956, HG00657, HG00584, HG00500, HG00275, NA18534, HG00708, HG00740, HG00404, HG01383, NA12827, HG00276, HG00476, NA18542, NA18564, HG00278, HG01357, HG00607, NA19311, NA18943, HG00620, HG00329, NA12749, NA18609, HG00310, NA18552, HG00252, NA18624, HG00554
Known GenesBRAF
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672232
Frequency
Sample Size1151
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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