A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10835338



Internal ID837154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:209540494..209541637hg38UCSC Ensembl
Innerchr2:209540495..209541637hg38UCSC Ensembl
Outerchr2:209540494..209541638hg38UCSC Ensembl
chr2:210405218..210406361hg19UCSC Ensembl
Innerchr2:210405219..210406361hg19UCSC Ensembl
Outerchr2:210405218..210406362hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg381144
hg191144
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594150
Supporting Variants
SamplesHG03563
Known GenesMAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10835338
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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