A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9994704



Internal ID2874396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83336697..83513352hg38UCSC Ensembl
chr1:83802380..83979035hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38176656
hg19176656
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586641
Supporting Variants
SamplesHG02549
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9994704
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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