A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761073



Internal ID10377380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56727795..57074459hg38UCSC Ensembl
Innerchr7:56795488..57142166hg19UCSC Ensembl
Innerchr7:56762982..57146108hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38346665
hg19346679
hg18383127
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014702, essv7014691, essv7014683, essv7014705, essv7014708, essv7014703, essv7014693, essv7014696, essv7014706, essv7014690, essv7014694, essv7014704, essv7014701, essv7014695, essv7014685, essv7014686, essv7014692, essv7014684, essv7014707, essv7014687, essv7014698, essv7014697, essv7014688, essv7014682, essv7014699
SamplesRW_0059, RW_0660, RW_0585, RW_0591, RW_0096, RW_0137, RW_0304, RW_0218, RW_0111, RW_0519, RW_0540, RW_0023, RW_0545, RW_0349, RW_0611, RW_0029, RW_0653, RW_0257, RW_0042, RW_0145, RW_0513, RW_0126, RW_0632, RW_0665, RW_0018
Known GenesLOC100130849, MIR4283-1, MIR4283-2
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2761073
Frequency
Sample Size1109
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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