A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11181404



Internal ID1183220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150662799..150664566hg38UCSC Ensembl
Innerchr3:150662849..150664516hg38UCSC Ensembl
Outerchr3:150662749..150664616hg38UCSC Ensembl
chr3:150380586..150382353hg19UCSC Ensembl
Innerchr3:150380636..150382303hg19UCSC Ensembl
Outerchr3:150380536..150382403hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381768
hg191768
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598162
Supporting Variants
SamplesHG00232
Known GenesFAM194A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11181404
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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