A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10870219



Internal ID872035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227158982..227170791hg38UCSC Ensembl
Innerchr2:227158982..227170791hg38UCSC Ensembl
Outerchr2:227158924..227170920hg38UCSC Ensembl
chr2:228023698..228035507hg19UCSC Ensembl
Innerchr2:228023698..228035507hg19UCSC Ensembl
Outerchr2:228023640..228035636hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3811810
hg1911810
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594529
Supporting Variants
SamplesHG03521
Known GenesCOL4A3, COL4A4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10870219
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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