A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659754



Internal ID9925859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:17807002..17812508hg38UCSC Ensembl
Outerchr17:17806631..17812878hg38UCSC Ensembl
Innerchr17:17710316..17715822hg19UCSC Ensembl
Outerchr17:17709945..17716192hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg386248
hg196248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6578204, essv6053627, essv6120987, essv5982729, essv5976061, essv5821564, essv5737183, essv6577296, essv6456104, essv6003526, essv6385453, essv6513877, essv5478409, essv5658328, essv6539553, essv5770390, essv6120659, essv6194948, essv5956675, essv5426691, essv5774374, essv6159927, essv5717196, essv6280136, essv6546013, essv6519985, essv5947459, essv6307857, essv6246012, essv6358764, essv5932875, essv5731462, essv6382617, essv6236071, essv5703264, essv5965942, essv6451377, essv6338933, essv5999565, essv5759625, essv6581726, essv5947557, essv5601441, essv6315019
SamplesHG00315, HG00318, HG00181, HG00179, HG00337, HG00327, HG00271, HG00272, HG00330, HG00346, HG00334, HG00185, HG00281, HG00277, HG00325, HG00338, HG00326, HG00323, HG00313, HG00266, HG00176, HG00282, HG00328, HG00320, HG00344, HG00275, HG00284, HG00273, HG00331, HG00321, HG00276, HG00336, HG00285, HG00353, HG00375, HG00278, HG00319, HG00339, HG00329, HG00342, HG00186, HG00280, HG00274, HG00345
Known GenesRAI1, SREBF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659754
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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