A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12185802



Internal ID2797559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:9589417..9595777hg38UCSC Ensembl
Innerchr6:9589417..9595777hg38UCSC Ensembl
Outerchr6:9588917..9596277hg38UCSC Ensembl
chr6:9589650..9596010hg19UCSC Ensembl
Innerchr6:9589650..9596010hg19UCSC Ensembl
Outerchr6:9589150..9596510hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg386361
hg196361
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608052
Supporting Variants
SamplesHG02471
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12185802
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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