A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595914



Internal ID6636188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38744975..38748692hg38UCSC Ensembl
Innerchr3:38744983..38748685hg38UCSC Ensembl
Outerchr3:38744968..38748700hg38UCSC Ensembl
chr3:38786466..38790183hg19UCSC Ensembl
Innerchr3:38786474..38790176hg19UCSC Ensembl
Outerchr3:38786459..38790191hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg383718
hg193718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10987412, essv10987417, essv10987416, essv10987413, essv10987414, essv10987418, essv10987415
SamplesHG04146, NA20900, NA20895, HG04153, NA20891, HG04015, HG03730
Known GenesSCN10A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595914
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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