A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585297



Internal ID6972822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14998994..15001076hg38UCSC Ensembl
Innerchr1:14999013..15001057hg38UCSC Ensembl
Outerchr1:14998975..15001095hg38UCSC Ensembl
chr1:15325490..15327572hg19UCSC Ensembl
Innerchr1:15325509..15327553hg19UCSC Ensembl
Outerchr1:15325471..15327591hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg382083
hg192083
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9863466, essv9863453, essv9863439, essv9863451, essv9863464, essv9863450, essv9863462, essv9863458, essv9863456, essv9863460, essv9863443, essv9863455, essv9863438, essv9863446, essv9863440, essv9863448, essv9863454, essv9863444, essv9863449, essv9863463, essv9863459, essv9863441, essv9863465, essv9863442, essv9863457, essv9863461, essv9863445, essv9863447, essv9863452
SamplesHG03548, HG02702, HG02836, HG02891, NA19190, HG03757, HG02620, NA19023, HG03578, HG03556, NA18874, HG02885, HG03394, HG02820, HG03160, HG03547, HG03457, HG02307, NA20126, NA19118, NA18879, HG03476, HG03458, HG02837, HG03127, HG02580, NA19096, HG02808, NA19153
Known GenesKAZN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585297
Frequency
Sample Size2504
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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