A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609512



Internal ID6996433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73518814..73519818hg38UCSC Ensembl
Innerchr6:73518814..73519818hg38UCSC Ensembl
Outerchr6:73518659..73520035hg38UCSC Ensembl
chr6:74228537..74229541hg19UCSC Ensembl
Innerchr6:74228537..74229541hg19UCSC Ensembl
Outerchr6:74228382..74229758hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381005
hg191005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12420330
SamplesNA19077
Known GenesEEF1A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609512
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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