A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10870226



Internal ID4977825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227320740..227321783hg38UCSC Ensembl
Innerchr2:227320756..227321768hg38UCSC Ensembl
Outerchr2:227320725..227321799hg38UCSC Ensembl
chr2:228185456..228186499hg19UCSC Ensembl
Innerchr2:228185472..228186484hg19UCSC Ensembl
Outerchr2:228185441..228186515hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg381044
hg191044
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594531
Supporting Variants
SamplesNA12889
Known GenesLOC654841
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10870226
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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