A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11443251



Internal ID2947953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:57137231..57156271hg38UCSC Ensembl
Innerchr4:57137231..57156271hg38UCSC Ensembl
Outerchr4:57136928..57156478hg38UCSC Ensembl
chr4:58003397..58022437hg19UCSC Ensembl
Innerchr4:58003397..58022437hg19UCSC Ensembl
Outerchr4:58003094..58022644hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3819041
hg1919041
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600596
Supporting Variants
SamplesHG02603
Known GenesIGFBP7-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11443251
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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