A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585799



Internal ID6973319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40109767..40121702hg38UCSC Ensembl
Innerchr1:40109768..40121702hg38UCSC Ensembl
Outerchr1:40109767..40121703hg38UCSC Ensembl
chr1:40575439..40587374hg19UCSC Ensembl
Innerchr1:40575440..40587374hg19UCSC Ensembl
Outerchr1:40575439..40587375hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3811936
hg1911936
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9916634, essv9916639, essv9916614, essv9916607, essv9916604, essv9916636, essv9916625, essv9916605, essv9916613, essv9916635, essv9916629, essv9916617, essv9916621, essv9916623, essv9916616, essv9916622, essv9916626, essv9916637, essv9916624, essv9916615, essv9916628, essv9916620, essv9916618, essv9916610, essv9916630, essv9916608, essv9916606, essv9916619, essv9916638, essv9916612, essv9916640, essv9916609, essv9916641, essv9916611, essv9916631, essv9916633, essv9916632, essv9916627
SamplesNA19914, NA19107, NA19446, NA19201, HG02810, HG03091, HG02620, HG03370, HG02854, HG02645, HG02642, HG02882, NA20318, HG03270, HG03160, NA19152, HG02450, HG01989, HG03081, HG02878, HG03078, HG02884, HG03024, HG01990, HG02613, HG02667, HG03240, HG02759, HG02837, HG02982, NA20792, HG02814, NA20289, NA19121, HG02763, HG02861, HG02851, HG02643
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585799
Frequency
Sample Size2504
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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