A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9964935



Internal ID1811561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71319111..71389850hg38UCSC Ensembl
Innerchr1:71319118..71389843hg38UCSC Ensembl
Outerchr1:71319104..71389857hg38UCSC Ensembl
chr1:71784794..71855533hg19UCSC Ensembl
Innerchr1:71784801..71855526hg19UCSC Ensembl
Outerchr1:71784787..71855540hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3870740
hg1970740
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586382
Supporting Variants
SamplesHG01684
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9964935
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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