A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10360137



Internal ID361953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244890996..245040215hg38UCSC Ensembl
chr1:245054298..245203517hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38149220
hg19149220
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589420
Supporting Variants
SamplesNA12776
Known GenesEFCAB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10360137
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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