A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9965767



Internal ID4225381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:72041830..72189227hg38UCSC Ensembl
Innerchr1:72042330..72188727hg38UCSC Ensembl
Outerchr1:72040830..72190227hg38UCSC Ensembl
chr1:72507513..72654910hg19UCSC Ensembl
Innerchr1:72508013..72654410hg19UCSC Ensembl
Outerchr1:72506513..72655910hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38147398
hg19147398
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586397
Supporting Variants
SamplesHG03802
Known GenesNEGR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9965767
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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