A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9840658



Internal ID3001490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1453573..1475416hg38UCSC Ensembl
Innerchr1:1454073..1474916hg38UCSC Ensembl
Outerchr1:1452573..1476416hg38UCSC Ensembl
chr1:1388953..1410796hg19UCSC Ensembl
Innerchr1:1389453..1410296hg19UCSC Ensembl
Outerchr1:1387953..1411796hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3821844
hg1921844
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584995
Supporting Variants
SamplesHG02648
Known GenesATAD3B, ATAD3C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9840658
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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