A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586352



Internal ID6626665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70289750..70290284hg38UCSC Ensembl
Innerchr1:70289800..70290234hg38UCSC Ensembl
Outerchr1:70289652..70290382hg38UCSC Ensembl
chr1:70755433..70755967hg19UCSC Ensembl
Innerchr1:70755483..70755917hg19UCSC Ensembl
Outerchr1:70755335..70756065hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38535
hg19535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9964121, essv9964120, essv9964119
SamplesHG02025, NA18559, NA18602
Known GenesANKRD13C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586352
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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