A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10373556



Internal ID375372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247067705..247069467hg38UCSC Ensembl
Innerchr1:247067756..247069417hg38UCSC Ensembl
Outerchr1:247067655..247069518hg38UCSC Ensembl
chr1:247231007..247232769hg19UCSC Ensembl
Innerchr1:247231058..247232719hg19UCSC Ensembl
Outerchr1:247230957..247232820hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381763
hg191763
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589505
Supporting Variants
SamplesNA19153
Known GenesZNF670, ZNF670-ZNF695
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10373556
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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