A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675916



Internal ID9942021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:129174437..129179043hg38UCSC Ensembl
Outerchr9:129174066..129179413hg38UCSC Ensembl
Innerchr9:131936716..131941322hg19UCSC Ensembl
Outerchr9:131936345..131941692hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg385348
hg195348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5477470, essv5552107, essv6512330, essv6352216, essv6413927, essv5805108, essv6318253, essv6455486, essv5690638, essv6090130, essv5963324, essv5671190, essv6575306, essv5676442, essv5892197, essv5427012, essv5514679, essv5663473, essv5975863, essv6499541, essv6426673, essv5818242, essv6275872, essv6243052, essv5588289, essv6292651, essv6182931, essv6172483, essv5912658, essv5930875, essv6573982, essv6293313, essv5656653, essv6433351, essv5748306, essv6419830, essv6363851, essv5906358, essv5740206
SamplesHG00315, HG00318, HG00337, HG00327, HG00271, HG00272, HG00346, HG00270, HG00185, HG00281, HG00277, HG00335, HG00309, HG00182, HG00338, HG00178, HG00323, HG00313, HG00266, HG00282, HG00328, HG00368, HG00320, HG00344, HG00284, HG00273, HG00373, HG00331, HG00285, HG00319, HG00339, HG00329, HG00342, HG00310, HG00186, HG00343, HG00274, HG00345, HG00180
Known GenesIER5L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675916
Frequency
Sample Size1151
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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