A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613806



Internal ID6654014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77692743..77694854hg38UCSC Ensembl
Innerchr7:77692743..77694854hg38UCSC Ensembl
Outerchr7:77692611..77694961hg38UCSC Ensembl
chr7:77322060..77324171hg19UCSC Ensembl
Innerchr7:77322060..77324171hg19UCSC Ensembl
Outerchr7:77321928..77324278hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382112
hg192112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12857911, essv12857906, essv12857913, essv12857910, essv12857908, essv12857909, essv12857912, essv12857907
SamplesHG02360, NA18567, NA18939, NA18543, HG00473, HG02139, HG00446, HG02060
Known GenesRSBN1L-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613806
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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