A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593674



Internal ID6633953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:186591755..186593697hg38UCSC Ensembl
Innerchr2:186591755..186593697hg38UCSC Ensembl
Outerchr2:186591506..186593882hg38UCSC Ensembl
chr2:187456482..187458424hg19UCSC Ensembl
Innerchr2:187456482..187458424hg19UCSC Ensembl
Outerchr2:187456233..187458609hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg381943
hg191943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10791117, essv10791124, essv10791128, essv10791113, essv10791132, essv10791130, essv10791118, essv10791133, essv10791120, essv10791122, essv10791126, essv10791116, essv10791114, essv10791134, essv10791123, essv10791119, essv10791127, essv10791115, essv10791125, essv10791131, essv10791129, essv10791121
SamplesHG02724, HG03832, HG03705, HG03706, HG03868, HG03709, HG03019, HG04100, HG03021, HG04017, HG03660, NA21107, HG02786, HG03754, HG04062, HG02787, HG03022, HG02491, NA20867, HG04177, HG03640, HG02784
Known GenesITGAV
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593674
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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