A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10349397



Internal ID4853128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240417007..240417679hg38UCSC Ensembl
Innerchr1:240417013..240417674hg38UCSC Ensembl
Outerchr1:240417002..240417685hg38UCSC Ensembl
chr1:240580307..240580979hg19UCSC Ensembl
Innerchr1:240580313..240580974hg19UCSC Ensembl
Outerchr1:240580302..240580985hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38673
hg19673
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589310
Supporting Variants
SamplesNA12273
Known GenesFMN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10349397
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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