A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10485469



Internal ID4438591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44624721..44677804hg38UCSC Ensembl
Innerchr2:44624748..44677778hg38UCSC Ensembl
Outerchr2:44624695..44677831hg38UCSC Ensembl
chr2:44851860..44904943hg19UCSC Ensembl
Innerchr2:44851887..44904917hg19UCSC Ensembl
Outerchr2:44851834..44904970hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3853084
hg1953084
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590567
Supporting Variants
SamplesHG03947
Known GenesCAMKMT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10485469
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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