A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179412



Internal ID1774640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4252566..4454126hg38UCSC Ensembl
Innerchr6:4252566..4454126hg38UCSC Ensembl
Outerchr6:4252066..4454626hg38UCSC Ensembl
chr6:4252800..4454360hg19UCSC Ensembl
Innerchr6:4252800..4454360hg19UCSC Ensembl
Outerchr6:4252300..4454860hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38201561
hg19201561
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607942
Supporting Variants
SamplesHG01630
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179412
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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