A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9972556



Internal ID1170976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:73073612..73121008hg38UCSC Ensembl
Innerchr1:73073612..73121008hg38UCSC Ensembl
Outerchr1:73073112..73121508hg38UCSC Ensembl
chr1:73539295..73586691hg19UCSC Ensembl
Innerchr1:73539295..73586691hg19UCSC Ensembl
Outerchr1:73538795..73587191hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3847397
hg1947397
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586429
Supporting Variants
SamplesHG01052
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9972556
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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