A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10373447



Internal ID375263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247067659..247086681hg38UCSC Ensembl
Innerchr1:247067720..247086621hg38UCSC Ensembl
Outerchr1:247067599..247086742hg38UCSC Ensembl
chr1:247230961..247249983hg19UCSC Ensembl
Innerchr1:247231022..247249923hg19UCSC Ensembl
Outerchr1:247230901..247250044hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3819023
hg1919023
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589504
Supporting Variants
SamplesNA20863
Known GenesZNF670, ZNF670-ZNF695
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10373447
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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