A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595353



Internal ID6982671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:13664766..13668891hg38UCSC Ensembl
Innerchr3:13664769..13668889hg38UCSC Ensembl
Outerchr3:13664764..13668894hg38UCSC Ensembl
chr3:13706266..13710391hg19UCSC Ensembl
Innerchr3:13706269..13710389hg19UCSC Ensembl
Outerchr3:13706264..13710394hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg384126
hg194126
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10931779, essv10931776, essv10931778, essv10931780, essv10931773, essv10931774, essv10931782, essv10931777, essv10931775, essv10931781
SamplesHG01986, HG03484, HG03190, NA19314, HG03370, NA18871, NA18853, NA19440, HG02317, HG01912
Known GenesLINC00620
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595353
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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