A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611827



Internal ID6998730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1816365..1823961hg38UCSC Ensembl
Innerchr7:1816371..1823956hg38UCSC Ensembl
Outerchr7:1816360..1823967hg38UCSC Ensembl
chr7:1856001..1863597hg19UCSC Ensembl
Innerchr7:1856007..1863592hg19UCSC Ensembl
Outerchr7:1855996..1863603hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg387597
hg197597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12667020, essv12667016, essv12667024, essv12667015, essv12667022, essv12667014, essv12667023, essv12667011, essv12667021, essv12667013, essv12667018, essv12667010, essv12667025, essv12667019, essv12667017, essv12667012
SamplesHG04060, NA12843, HG01374, HG00306, HG00640, HG01277, NA12762, HG03851, HG03995, HG03832, HG03787, NA12878, HG01149, HG03823, HG01619, HG00128
Known GenesMAD1L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611827
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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