A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656935



Internal ID9923040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28821998..28823204hg38UCSC Ensembl
Outerchr17:28821627..28823574hg38UCSC Ensembl
Innerchr17:27149016..27150222hg19UCSC Ensembl
Outerchr17:27148645..27150592hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381948
hg191948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5969239, essv6456356, essv6078840, essv6555148, essv6304476, essv5943638, essv5928541, essv5957700, essv5413202, essv5716163, essv6277065, essv5942855, essv6504489, essv6550943, essv5733761, essv6412401, essv6189124, essv6127436, essv5465733, essv6591437, essv6365393, essv6510587, essv6094613, essv5544973, essv5758098, essv6403347, essv5432930, essv6065475, essv6232091, essv5713741, essv6472243, essv6327776, essv6113288, essv5519370, essv5694917, essv5566301, essv6231882, essv6445847, essv5852651, essv5631306, essv5754831, essv5838193, essv5991983, essv6159293, essv6239865
SamplesHG00114, HG00143, HG00231, HG00249, HG00100, HG00257, HG00151, HG00150, HG00261, HG00138, HG00122, HG00243, HG00158, HG00139, HG00106, HG00236, HG00156, HG00232, HG00160, HG00118, HG00253, HG00264, HG00108, HG00260, HG00137, HG00133, HG00154, HG00263, HG00239, HG00250, HG00157, HG00140, HG01334, HG00141, HG00246, HG00126, HG00155, HG00254, HG00265, HG00237, HG00256, HG00125, HG00111, HG00131, HG00252
Known GenesFAM222B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656935
Frequency
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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