A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12176594



Internal ID2178410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2093592..2775672hg38UCSC Ensembl
Innerchr6:2093742..2775522hg38UCSC Ensembl
Outerchr6:2093442..2775822hg38UCSC Ensembl
chr6:2093826..2775906hg19UCSC Ensembl
Innerchr6:2093976..2775756hg19UCSC Ensembl
Outerchr6:2093676..2776056hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38682081
hg19682081
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607900
Supporting Variants
SamplesHG03940
Known GenesC6orf195, GMDS, GMDS-AS1, MYLK4, WRNIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12176594
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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