A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614145



Internal ID7001040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92598003..92599089hg38UCSC Ensembl
Innerchr7:92598016..92599077hg38UCSC Ensembl
Outerchr7:92597991..92599102hg38UCSC Ensembl
chr7:92227317..92228403hg19UCSC Ensembl
Innerchr7:92227330..92228391hg19UCSC Ensembl
Outerchr7:92227305..92228416hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg381087
hg191087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12890666, essv12890670, essv12890668, essv12890667, essv12890669, essv12890674, essv12890673, essv12890671, essv12890672
SamplesHG01985, HG03378, HG03241, NA19020, HG03193, HG02554, HG03476, HG03567, NA20289
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614145
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer