A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615302



Internal ID7002191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143127752..143196816hg38UCSC Ensembl
Innerchr7:143127753..143196816hg38UCSC Ensembl
Outerchr7:143127752..143196817hg38UCSC Ensembl
chr7:142824845..142893909hg19UCSC Ensembl
Innerchr7:142824846..142893909hg19UCSC Ensembl
Outerchr7:142824845..142893910hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3869065
hg1969065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12992277, essv12992276, essv12992270, essv12992262, essv12992278, essv12992263, essv12992280, essv12992273, essv12992261, essv12992271, essv12992272, essv12992264, essv12992259, essv12992258, essv12992269, essv12992274, essv12992260, essv12992267, essv12992268, essv12992265, essv12992266, essv12992275, essv12992279
SamplesHG02481, HG00351, HG01518, HG00097, HG00122, NA19678, HG02278, HG02224, HG01284, HG01164, HG00260, NA21119, HG01515, NA20895, HG01161, HG01936, NA20801, HG00375, NA20530, HG01375, HG01055, NA11892, HG01608
Known GenesPIP, TAS2R39
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615302
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer