A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585294



Internal ID6972819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14948229..14953121hg38UCSC Ensembl
Innerchr1:14948229..14953121hg38UCSC Ensembl
Outerchr1:14947729..14953621hg38UCSC Ensembl
chr1:15274725..15279617hg19UCSC Ensembl
Innerchr1:15274725..15279617hg19UCSC Ensembl
Outerchr1:15274225..15280117hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg384893
hg194893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9e214
Supporting Variantsessv9863425, essv9863420, essv9863418, essv9863424, essv9863423, essv9863422, essv9863419, essv9863421
SamplesHG03577, NA19036, HG00190, HG02968, HG03024, NA19099, NA19375, NA19440
Known GenesKAZN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585294
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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