A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3574912



Internal ID6699608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77041144..77041462hg38UCSC Ensembl
chr10:78800902..78801220hg19UCSC Ensembl
chr10:78470908..78471226hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38319
hg19319
hg18319
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv999915
Supporting Variants
SamplesHuRef
Known GenesKCNMA1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3574912
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer