A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593451



Internal ID6633731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176599703..176609931hg38UCSC Ensembl
Innerchr2:176599703..176609931hg38UCSC Ensembl
Outerchr2:176599203..176610431hg38UCSC Ensembl
chr2:177464431..177474659hg19UCSC Ensembl
Innerchr2:177464431..177474659hg19UCSC Ensembl
Outerchr2:177463931..177475159hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3810229
hg1910229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10770150
SamplesNA19003
Known GenesMIR1246
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593451
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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