A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614871



Internal ID7001764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:124407214..124410644hg38UCSC Ensembl
Innerchr7:124407231..124410628hg38UCSC Ensembl
Outerchr7:124407198..124410661hg38UCSC Ensembl
chr7:124047268..124050698hg19UCSC Ensembl
Innerchr7:124047285..124050682hg19UCSC Ensembl
Outerchr7:124047252..124050715hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg383431
hg193431
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12949300, essv12949301
SamplesHG02666, HG02643
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614871
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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