A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12580712



Internal ID2670270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148775818..148781147hg38UCSC Ensembl
Innerchr6:148775823..148781143hg38UCSC Ensembl
Outerchr6:148775814..148781152hg38UCSC Ensembl
chr6:149096954..149102283hg19UCSC Ensembl
Innerchr6:149096959..149102279hg19UCSC Ensembl
Outerchr6:149096950..149102288hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg385330
hg195330
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611197
Supporting Variants
SamplesHG02364
Known GenesUST
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12580712
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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