A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586246



Internal ID6626559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63554479..63556608hg38UCSC Ensembl
Innerchr1:63554479..63556608hg38UCSC Ensembl
Outerchr1:63554442..63556657hg38UCSC Ensembl
chr1:64020150..64022279hg19UCSC Ensembl
Innerchr1:64020150..64022279hg19UCSC Ensembl
Outerchr1:64020113..64022328hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382130
hg192130
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9951181
SamplesHG02102
Known GenesEFCAB7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586246
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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