A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3905594



Internal ID11509591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64855934..64856030hg38UCSC Ensembl
chr11:64623406..64623502hg19UCSC Ensembl
chr11:64379982..64380078hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3897
hg1997
hg1897
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1447546
Supporting Variants
SamplesHuRef
Known GenesEHD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3905594
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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