A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10264980



Internal ID266796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201725356..201729266hg38UCSC Ensembl
Innerchr1:201725434..201729189hg38UCSC Ensembl
Outerchr1:201725279..201729344hg38UCSC Ensembl
chr1:201694484..201698394hg19UCSC Ensembl
Innerchr1:201694562..201698317hg19UCSC Ensembl
Outerchr1:201694407..201698472hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383911
hg193911
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588574
Supporting Variants
SamplesNA18537
Known GenesIPO9-AS1, NAV1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10264980
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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