A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615436



Internal ID7002325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:149718207..149736150hg38UCSC Ensembl
Innerchr7:149718207..149736150hg38UCSC Ensembl
Outerchr7:149717707..149736650hg38UCSC Ensembl
chr7:149415298..149433239hg19UCSC Ensembl
Innerchr7:149415298..149433239hg19UCSC Ensembl
Outerchr7:149414798..149433739hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3817944
hg1917942
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1335e214
Supporting Variantsessv13003996, essv13003997
SamplesHG00403, NA20291
Known GenesKRBA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615436
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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