A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10308297



Internal ID4717760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225557582..225560997hg38UCSC Ensembl
Innerchr1:225557628..225560952hg38UCSC Ensembl
Outerchr1:225557537..225561043hg38UCSC Ensembl
chr1:225745284..225748699hg19UCSC Ensembl
Innerchr1:225745330..225748654hg19UCSC Ensembl
Outerchr1:225745239..225748745hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg383416
hg193416
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588997
Supporting Variants
SamplesHG04238
Known GenesENAH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10308297
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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