A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612387



Internal ID6999288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16208042..16291349hg38UCSC Ensembl
Innerchr7:16208048..16291344hg38UCSC Ensembl
Outerchr7:16208037..16291355hg38UCSC Ensembl
chr7:16247667..16330974hg19UCSC Ensembl
Innerchr7:16247673..16330969hg19UCSC Ensembl
Outerchr7:16247662..16330980hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg3883308
hg1983308
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12688033
SamplesNA18621
Known GenesISPD, ISPD-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612387
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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