A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000212



Internal ID6712359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:36003741..36017606hg38UCSC Ensembl
Outerchr19:36494643..36508508hg19UCSC Ensembl
Outerchr19:41186483..41200348hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3813866
hg1913866
hg1813866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564627
SamplesHuRef
Known GenesALKBH6, CLIP3, SYNE4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000212
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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