A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9964957



Internal ID444858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71541400..71610654hg38UCSC Ensembl
chr1:72007083..72076337hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3869255
hg1969255
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586386
Supporting Variants
SamplesHG00139
Known GenesNEGR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9964957
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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