A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677688



Internal ID9597107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7969040..7973267hg38UCSC Ensembl
Outerchr4:7968883..7973420hg38UCSC Ensembl
Innerchr4:7970767..7974994hg19UCSC Ensembl
Outerchr4:7970610..7975147hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg384538
hg194538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5979131, essv6485519, essv5993483, essv6064457
SamplesNA07037, NA20819, HG01187, HG00325
Known GenesABLIM2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677688
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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