A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9895555



Internal ID2177525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30967493..30971245hg38UCSC Ensembl
Innerchr1:30967493..30971245hg38UCSC Ensembl
Outerchr1:30966993..30971745hg38UCSC Ensembl
chr1:31440340..31444092hg19UCSC Ensembl
Innerchr1:31440340..31444092hg19UCSC Ensembl
Outerchr1:31439840..31444592hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg383753
hg193753
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585640
Supporting Variants
SamplesHG01968
Known GenesPUM1, SNORD85
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9895555
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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