A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586623



Internal ID6626933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:81896336..81902552hg38UCSC Ensembl
Innerchr1:81896381..81902508hg38UCSC Ensembl
Outerchr1:81896292..81902597hg38UCSC Ensembl
chr1:82362021..82368237hg19UCSC Ensembl
Innerchr1:82362066..82368193hg19UCSC Ensembl
Outerchr1:82361977..82368282hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg386217
hg196217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9993534
SamplesNA19456
Known GenesLPHN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586623
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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