A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12499704



Internal ID846135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108768147..108768840hg38UCSC Ensembl
Innerchr6:108768147..108768840hg38UCSC Ensembl
Outerchr6:108767925..108769069hg38UCSC Ensembl
chr6:109089350..109090043hg19UCSC Ensembl
Innerchr6:109089350..109090043hg19UCSC Ensembl
Outerchr6:109089128..109090272hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38694
hg19694
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610327
Supporting Variants
SamplesHG00442
Known GenesLINC00222
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12499704
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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