A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10012662



Internal ID1730861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91372211..91389629hg38UCSC Ensembl
chr1:91837768..91855186hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3817419
hg1917419
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586790
Supporting Variants
SamplesHG01603
Known GenesHFM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10012662
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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