A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10825035



Internal ID1030972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203026406..203033434hg38UCSC Ensembl
Innerchr2:203026906..203032934hg38UCSC Ensembl
Outerchr2:203025406..203034434hg38UCSC Ensembl
chr2:203891129..203898157hg19UCSC Ensembl
Innerchr2:203891629..203897657hg19UCSC Ensembl
Outerchr2:203890129..203899157hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg387029
hg197029
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594004
Supporting Variants
SamplesHG00653
Known GenesNBEAL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10825035
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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