A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3572881



Internal ID6697577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47485818..47485869hg38UCSC Ensembl
chr4:47487835..47487886hg19UCSC Ensembl
chr4:47182592..47182643hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010678
Supporting Variants
SamplesHuRef
Known GenesATP10D
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3572881
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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