A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586353



Internal ID6626666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70354718..70359324hg38UCSC Ensembl
Innerchr1:70354775..70359268hg38UCSC Ensembl
Outerchr1:70354662..70359381hg38UCSC Ensembl
chr1:70820401..70825007hg19UCSC Ensembl
Innerchr1:70820458..70824951hg19UCSC Ensembl
Outerchr1:70820345..70825064hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384607
hg194607
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9964123, essv9964122
SamplesNA19072, NA19225
Known GenesANKRD13C, HHLA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586353
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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