A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608034



Internal ID6994965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:8592353..8718935hg38UCSC Ensembl
Innerchr6:8592370..8718919hg38UCSC Ensembl
Outerchr6:8592337..8718952hg38UCSC Ensembl
chr6:8592586..8719168hg19UCSC Ensembl
Innerchr6:8592603..8719152hg19UCSC Ensembl
Outerchr6:8592570..8719185hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38126583
hg19126583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12184538
SamplesHG01528
Known GenesHULC, LOC100506207
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608034
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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