A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9851316



Internal ID6476609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9670451..9676877hg38UCSC Ensembl
Innerchr1:9670470..9676859hg38UCSC Ensembl
Outerchr1:9670433..9676896hg38UCSC Ensembl
chr1:9730509..9736935hg19UCSC Ensembl
Innerchr1:9730528..9736917hg19UCSC Ensembl
Outerchr1:9730491..9736954hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg386427
hg196427
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585186
Supporting Variants
SamplesHG02082
Known GenesPIK3CD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9851316
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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