A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12459710



Internal ID2461526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:89446569..89685111hg38UCSC Ensembl
Innerchr6:89446719..89684961hg38UCSC Ensembl
Outerchr6:89446419..89685261hg38UCSC Ensembl
chr6:90156288..90394830hg19UCSC Ensembl
Innerchr6:90156438..90394680hg19UCSC Ensembl
Outerchr6:90156138..90394980hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38238543
hg19238543
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609903
Supporting Variants
SamplesNA19248
Known GenesANKRD6, LYRM2, MDN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12459710
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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