A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12341407



Internal ID2343223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46629862..46631298hg38UCSC Ensembl
Innerchr6:46629863..46631298hg38UCSC Ensembl
Outerchr6:46629862..46631299hg38UCSC Ensembl
chr6:46597599..46599035hg19UCSC Ensembl
Innerchr6:46597600..46599035hg19UCSC Ensembl
Outerchr6:46597599..46599036hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381437
hg191437
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608885
Supporting Variants
SamplesNA19347
Known GenesCYP39A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12341407
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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