A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9924604



Internal ID3171735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44078933..44080235hg38UCSC Ensembl
Innerchr1:44078958..44080210hg38UCSC Ensembl
Outerchr1:44078908..44080260hg38UCSC Ensembl
chr1:44544605..44545907hg19UCSC Ensembl
Innerchr1:44544630..44545882hg19UCSC Ensembl
Outerchr1:44544580..44545932hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381303
hg191303
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585878
Supporting Variants
SamplesHG02789
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9924604
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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