A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614066



Internal ID6654273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:89048127..89049172hg38UCSC Ensembl
Innerchr7:89048128..89049171hg38UCSC Ensembl
Outerchr7:89048126..89049173hg38UCSC Ensembl
chr7:88677441..88678486hg19UCSC Ensembl
Innerchr7:88677442..88678485hg19UCSC Ensembl
Outerchr7:88677440..88678487hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg381046
hg191046
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12881186, essv12881176, essv12881195, essv12881214, essv12881212, essv12881206, essv12881191, essv12881208, essv12881188, essv12881179, essv12881174, essv12881192, essv12881204, essv12881210, essv12881178, essv12881201, essv12881213, essv12881181, essv12881209, essv12881211, essv12881205, essv12881184, essv12881196, essv12881200, essv12881202, essv12881183, essv12881193, essv12881197, essv12881207, essv12881177, essv12881180, essv12881190, essv12881182, essv12881194, essv12881187, essv12881199, essv12881185, essv12881198, essv12881203, essv12881189, essv12881175
SamplesHG02614, NA18917, HG03455, NA19393, NA18878, HG03100, HG03172, NA12341, HG03086, NA19319, NA19723, HG02854, NA19457, HG01110, HG03045, NA20355, NA19025, NA18908, HG03048, HG02820, NA19462, HG01879, HG02554, HG02508, HG03397, NA19031, HG03571, HG02666, HG02330, HG03028, NA19309, NA18517, HG03539, HG01958, HG03259, NA19324, HG03025, NA20334, HG02013, HG02763, HG02629
Known GenesZNF804B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614066
Frequency
Sample Size2504
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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