A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10193373



Internal ID5150715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:176538420..176539039hg38UCSC Ensembl
Innerchr1:176538420..176539039hg38UCSC Ensembl
Outerchr1:176538130..176539280hg38UCSC Ensembl
chr1:176507556..176508175hg19UCSC Ensembl
Innerchr1:176507556..176508175hg19UCSC Ensembl
Outerchr1:176507266..176508416hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588004
Supporting Variants
SamplesNA18579
Known GenesPAPPA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10193373
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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