A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585322



Internal ID6972846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15859319..15866636hg38UCSC Ensembl
Innerchr1:15859819..15866136hg38UCSC Ensembl
Outerchr1:15858319..15867636hg38UCSC Ensembl
chr1:16185814..16193131hg19UCSC Ensembl
Innerchr1:16186314..16192631hg19UCSC Ensembl
Outerchr1:16184814..16194131hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg387318
hg197318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9864700, essv9864704, essv9864701, essv9864698, essv9864705, essv9864702, essv9864699, essv9864703
SamplesNA18641, HG00654, HG00674, NA18537, NA18531, HG01028, HG02410, NA18552
Known GenesSPEN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585322
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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