A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6085791



Internal ID9605768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:168411214..168441476hg38UCSC Ensembl
Outerchr2:168411177..168441526hg38UCSC Ensembl
Innerchr2:169267724..169297986hg19UCSC Ensembl
Outerchr2:169267687..169298036hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3830350
hg1930350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675121
Supporting Variants
SamplesNA19248
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6085791
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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