A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9895551



Internal ID3283444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30802470..30808736hg38UCSC Ensembl
Innerchr1:30802470..30808736hg38UCSC Ensembl
Outerchr1:30802376..30808767hg38UCSC Ensembl
chr1:31275317..31281583hg19UCSC Ensembl
Innerchr1:31275317..31281583hg19UCSC Ensembl
Outerchr1:31275223..31281614hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg386267
hg196267
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585637
Supporting Variants
SamplesHG02895
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9895551
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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