A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1385597



Internal ID12202033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64239134..64239192hg38UCSC Ensembl
chr1:64704817..64704875hg19UCSC Ensembl
chr1:64477405..64477463hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4007424
SamplesHuRef
Known GenesUBE2U
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1385597
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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