A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9964971



Internal ID1057718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71941682..72011952hg38UCSC Ensembl
chr1:72407365..72477635hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3870271
hg1970271
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586392
Supporting Variants
SamplesHG00683
Known GenesNEGR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9964971
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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