A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11038247



Internal ID1040063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:70995244..70998670hg38UCSC Ensembl
Innerchr3:70995244..70998670hg38UCSC Ensembl
Outerchr3:70995138..70998777hg38UCSC Ensembl
chr3:71044395..71047821hg19UCSC Ensembl
Innerchr3:71044395..71047821hg19UCSC Ensembl
Outerchr3:71044289..71047928hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg383427
hg193427
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596519
Supporting Variants
SamplesHG02623
Known GenesFOXP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11038247
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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