A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12430706



Internal ID6431123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75970477..75994672hg38UCSC Ensembl
Innerchr6:75970477..75994672hg38UCSC Ensembl
Outerchr6:75969977..75995172hg38UCSC Ensembl
chr6:76680194..76704389hg19UCSC Ensembl
Innerchr6:76680194..76704389hg19UCSC Ensembl
Outerchr6:76679694..76704889hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3824196
hg1924196
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609587
Supporting Variants
SamplesNA20505
Known GenesIMPG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12430706
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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