A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10682894



Internal ID684710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134837673..134838729hg38UCSC Ensembl
Innerchr2:134837681..134838722hg38UCSC Ensembl
Outerchr2:134837666..134838737hg38UCSC Ensembl
chr2:135595243..135596299hg19UCSC Ensembl
Innerchr2:135595251..135596292hg19UCSC Ensembl
Outerchr2:135595236..135596307hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg381057
hg191057
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592564
Supporting Variants
SamplesHG03237
Known GenesACMSD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10682894
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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