A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614415



Internal ID7001309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105287057..105290848hg38UCSC Ensembl
Innerchr7:105287122..105290784hg38UCSC Ensembl
Outerchr7:105286993..105290913hg38UCSC Ensembl
chr7:104927504..104931295hg19UCSC Ensembl
Innerchr7:104927569..104931231hg19UCSC Ensembl
Outerchr7:104927440..104931360hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg383792
hg193792
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12913769, essv12913773, essv12913772, essv12913771, essv12913770
SamplesHG02337, HG03189, NA19210, NA19147, NA19072
Known GenesSRPK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614415
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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