A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9916969



Internal ID5885783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40677587..40678336hg38UCSC Ensembl
Innerchr1:40677637..40678286hg38UCSC Ensembl
Outerchr1:40677491..40678432hg38UCSC Ensembl
chr1:41143259..41144008hg19UCSC Ensembl
Innerchr1:41143309..41143958hg19UCSC Ensembl
Outerchr1:41143163..41144104hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38750
hg19750
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585812
Supporting Variants
SamplesNA19310
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9916969
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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